Works by Marcão, Ana

Results: 11

Outcome of three cases of untreated maternal glutaric aciduria type I.

Published in:

2008

By:

Garcia, Paula;
Martins, Esmeralda;
Diogo, Luísa;
Rocha, Hugo;
Marcão, Ana;
Gaspar, Eurico;
Almeida, Margarida;
Vaz, Catarina;
Soares, Isabel;
Barbot, Clara;
Vilarinho, Laura;
Diogo, Luísa;
Marcão, Ana

Publication type:

journal article

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 10, doi. 10.3390/ijns11010010

By:

Rodrigues, Diogo;
Marcão, Ana;
Lopes, Lurdes;
Ventura, Ana;
Faria, Teresa;
Ferrão, Anabela;
Gonçalves, Carolina;
Kjöllerström, Paula;
Castro, Ana;
Fraga, Sofia;
Almeida, Marta;
Maia, Tabita;
Gomes, João;
Lachado, Ana;
Guerra, Isabel;
Ferreira, Fátima;
Trigo, Fernanda;
Bento, Celeste;
Vilarinho, Laura

Publication type:

Article

Portuguese Neonatal Screening Program: A Cohort Study of 18 Years Using MS/MS.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 25, doi. 10.3390/ijns10010025

By:

Gonçalves, Maria Miguel;
Marcão, Ana;
Sousa, Carmen;
Nogueira, Célia;
Fonseca, Helena;
Rocha, Hugo;
Vilarinho, Laura

Publication type:

Article

Role of RNA in Molecular Diagnosis of MADD Patients.

Published in:

Biomedicines, 2021, v. 9, n. 5, p. 507, doi. 10.3390/biomedicines9050507

By:

Nogueira, Célia;
Silva, Lisbeth;
Marcão, Ana;
Sousa, Carmen;
Fonseca, Helena;
Rocha, Hugo;
Campos, Teresa;
Teles, Elisa Leão;
Rodrigues, Esmeralda;
Janeiro, Patrícia;
Gaspar, Ana;
Vilarinho, Laura;
Ceci, Francesco

Publication type:

Article

Prevalence of lysosomal storage diseases in Portugal.

Published in:

European Journal of Human Genetics, 2004, v. 12, n. 2, p. 87, doi. 10.1038/sj.ejhg.5201044

By:

Pinto, Rui;
Caseiro, Carla;
Lemos, Manuela;
Lopes, Lurdes;
Fontes, Augusta;
Ribeiro, Helena;
Pinto, Eugénia;
Silva, Elisabete;
Rocha, Sónia;
Marcão, Ana;
Ribeiro, Isaura;
Lacerda, Lúcia;
Ribeiro, Gil;
Amaral, Olga;
Miranda, M.C. Sá

Publication type:

Article

Gaucher disease: expression and characterization of mild and severe acid β-glucosidase mutations in Portuguese type 1 patients.

Published in:

European Journal of Human Genetics, 2000, v. 8, n. 2, p. 95, doi. 10.1038/sj.ejhg.5200422

By:

Amaral, Olga;
Marcão, Ana;
Sá Miranda, M C;
Desnick, Robert J;
Grace, Marie E

Publication type:

Article

Missense mutations as a cause of metachromatic leukodystrophy.

Published in:

FEBS Journal, 2005, v. 272, n. 5, p. 1179, doi. 10.1111/j.1742-4658.2005.04553.x

By:

Poeppel, Peter;
Habetha, Matthias;
Marcão, Ana;
Büssow, Heinrich;
Berna, Linda;
Gieselmann, Volkmar

Publication type:

Article

Four years of expanded newborn screening in Portugal with tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 133, doi. 10.1007/s10545-010-9048-z

By:

Vilarinho, Laura;
Rocha, Hugo;
Sousa, Carmen;
Marcão, Ana;
Fonseca, Helena;
Bogas, Mário;
Osório, Rui Vaz

Publication type:

Article

Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC;.

Published in:

Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU14>3.0.CO;2-9

By:

Marcão, Ana;
Amaral, Olga;
Pinto, Eugénia;
Pinto, Rui;
Sá Miranda, M.C.

Publication type:

Article

Niemann-Pick type C disease: NPC1 mutations associated with severe and mild cellular cholesterol trafficking alterations.

Published in:

Human Genetics, 2001, v. 109, n. 1, p. 24, doi. 10.1007/s004390100531

By:

Ribeiro, Isaura;
Marcão, Ana;
Amaral, Olga;
Miranda, Maria Clara Sá;
Vanier, Marie T.;
Millat, Gilles

Publication type:

Article

Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559

By:

Ferreira, Filipa;
Azevedo, Luísa;
Neiva, Raquel;
Sousa, Carmen;
Fonseca, Helena;
Marcão, Ana;
Rocha, Hugo;
Carmona, Célia;
Ramos, Sónia;
Bandeira, Anabela;
Martins, Esmeralda;
Campos, Teresa;
Rodrigues, Esmeralda;
Garcia, Paula;
Diogo, Luísa;
Ferreira, Ana Cristina;
Sequeira, Silvia;
Silva, Francisco;
Rodrigues, Luísa;
Gaspar, Ana

Publication type:

Article